20 research outputs found
Report drawn up on behalf of the Legal Affairs Committee on the proposal from the commission of the European Communities to the council (Doc. 1-146/80) for a Second Directive on the approximation of the laws of the Member States relating to insurance against civil liability in respect of the use of motor vehicles. EP Working Documents 1981-82, document 1-427/81, 31 August 1981.
Get PDFReport drawn up on behalf of the Committee on Institutional Affairs on the preliminary draft Treaty establishing the European Union. Explanatory Statement. EP Working Documents 1983-1984, Document 1-1200/83/B, 30 January 1984
Get PDFReport drawn up on behalf of the Committee on Institutional Affairs on the substance of the preliminary draft Treaty establishing the European Union. Working Documents 1983-1984. Document 1-575/83/A, 15 July 1983.
Get PDFReport drawn up on behalf of the Committee on Intitutional Affairs on the substance of the preliminary draft Treaty establishing the European Union. Working Documents 1983-1984. Document 1-575/83/C, 15 July 1983.
Get PDFLow prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital
Get PDFThe need for a multi-disciplinary reflection about frailty and cognitive impairment in chronic kidney disease
Get PDFFederico II. Enciclopedia Fridericiana. Opere di Federico II. Indici dei volumi alfabetici
No full text
46,XY disorders of sexual development (DSD) caused by a rare mutation of the 17-beta-hydroxysteroid dehydrogenase type 3 gene (HSD17B3)
No full text46,XY DSD caused by a rare mutation of the 17ß-hydroxysteroid dehydrogenase type 3 gene
No full textSUMMARY
We descrihe a case of 46,XY disorder of
sex development in a girl with marked
virilizatíon at puberty. The l7-beta-hydroxysteroid dehydrogenase rype 3
gene analysis showed a homozygous
mutation, Arg80Trp. The molecular
analysis represents a useful tool for the
diagnosis of male pseudohermaphroditism in the prcsence of suggestive biochemical
features
